Bestrophin-2

Protein-coding gene in the species Homo sapiens

BEST2

Identifiers

Aliases

BEST2, VMD2L1, bestrophin 2

External IDs

OMIM: 607335; MGI: 2387588; HomoloGene: 41187; GeneCards: BEST2; OMA:BEST2 - orthologs

Gene location (Human)

Chr.	Chromosome 19 (human)^[1]

Band	19p13.13	Start	12,751,702 bp^[1]
Band	19p13.13	End	12,758,458 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 8 (mouse)^[2]

Band	8\|8 C3	Start	85,733,831 bp^[2]
Band	8\|8 C3	End	85,741,160 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

mucosa of transverse colon

mucosa of sigmoid colon

rectum

skin of abdomen

mucosa of ileum

skin of leg

skin of thigh

epithelium of colon

putamen

amygdala

Top expressed in

ciliary body

left colon

iris

primary oocyte

embryo

secondary oocyte

zygote

embryo

lens

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	chloride channel activity molecular function
Cellular component	integral component of membrane plasma membrane cilium membrane chloride channel complex
Biological process	sensory perception of smell membrane depolarization chloride transport ion transport chloride transmembrane transport biological process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


54831


212989

Ensembl


ENSG00000039987


ENSMUSG00000052819

UniProt


Q8NFU1


Q8BGM5

RefSeq (mRNA)


NM_017682


NM_001130194

RefSeq (protein)


NP_060152


NP_001123666

Location (UCSC)

Chr 19: 12.75 – 12.76 Mb

Chr 8: 85.73 – 85.74 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Bestrophin-2 is a protein that in humans is encoded by the BEST2 gene.^[5]^[6]^[7]

Function

This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the non-pigmented ciliary epithelium and colon.^[7]^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000039987 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000052819 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH (May 2002). "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family". Eur J Hum Genet. 10 (4): 281–284. doi:10.1038/sj.ejhg.5200796. PMID 12032738.
^ Pifferi S, Pascarella G, Boccaccio A, Mazzatenta A, Gustincich S, Menini A, Zucchelli S (Aug 2006). "Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction". Proc Natl Acad Sci U S A. 103 (34): 12929–12934. Bibcode:2006PNAS..10312929P. doi:10.1073/pnas.0604505103. PMC 1568948. PMID 16912113.
^ ^a ^b "Entrez Gene: BEST2 bestrophin 2".
^ Marmorstein AD, Cross HE, Peachey NS (May 2009). "Functional roles of bestrophins in ocular epithelia". Prog Retin Eye Res. 28 (3): 206–226. doi:10.1016/j.preteyeres.2009.04.004. PMC 2740978. PMID 19398034.

External links

Human BEST2 genome location and BEST2 gene details page in the UCSC Genome Browser.

Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Tsunenari T, Sun H, Williams J, et al. (2003). "Structure-function analysis of the bestrophin family of anion channels". J. Biol. Chem. 278 (42): 41114–41125. doi:10.1074/jbc.M306150200. PMC 2885917. PMID 12907679.
Sun H, Tsunenari T, Yau KW, Nathans J (2002). "The vitelliform macular dystrophy protein defines a new family of chloride channels". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 4008–4013. Bibcode:2002PNAS...99.4008S. doi:10.1073/pnas.052692999. PMC 122639. PMID 11904445.
Marquardt A, Stöhr H, Passmore LA, et al. (1998). "Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)". Hum. Mol. Genet. 7 (9): 1517–1525. doi:10.1093/hmg/7.9.1517. PMID 9700209.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin